PLA2G4F
gene geneOn this page
Also known as PLA2G4F/Z
Summary
PLA2G4F (phospholipase A2 group IVF, HGNC:27396) is a protein-coding gene on chromosome 15q15.1, encoding Cytosolic phospholipase A2 zeta (Q68DD2). Has calcium-dependent phospholipase and lysophospholipase activities with a potential role in membrane lipid remodeling and biosynthesis of lipid mediators.
Predicted to enable calcium ion binding activity; calcium-dependent phospholipase A2 activity; and calcium-dependent phospholipid binding activity. Predicted to be involved in glycerophospholipid catabolic process. Predicted to act upstream of or within arachidonate secretion; cellular response to antibiotic; and prostaglandin biosynthetic process. Predicted to be located in mitochondrion and plasma membrane. Predicted to be active in cytosol; ruffle membrane; and vesicle.
Source: NCBI Gene 255189 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 202 total
- MANE Select transcript:
NM_213600
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27396 |
| Approved symbol | PLA2G4F |
| Name | phospholipase A2 group IVF |
| Location | 15q15.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PLA2G4F/Z |
| Ensembl gene | ENSG00000168907 |
| Ensembl biotype | protein_coding |
| Entrez | 255189 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 9 protein_coding, 5 nonsense_mediated_decay, 1 retained_intron
ENST00000290497, ENST00000397272, ENST00000561627, ENST00000561893, ENST00000562320, ENST00000565553, ENST00000569985, ENST00000888451, ENST00000888452, ENST00000888453, ENST00000888454, ENST00000888455, ENST00000956233, ENST00000956234, ENST00000956235
RefSeq mRNA: 1 — MANE Select: NM_213600
NM_213600
CCDS: CCDS32204
Canonical transcript exons
ENST00000397272 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001272519 | 42139034 | 42142204 |
| ENSE00001527977 | 42147626 | 42147762 |
| ENSE00001679270 | 42155517 | 42155589 |
| ENSE00002628508 | 42156439 | 42156636 |
| ENSE00003458702 | 42150373 | 42150486 |
| ENSE00003461638 | 42153300 | 42153342 |
| ENSE00003462239 | 42144450 | 42144644 |
| ENSE00003479153 | 42154092 | 42154220 |
| ENSE00003502628 | 42154322 | 42154458 |
| ENSE00003527719 | 42142528 | 42142714 |
| ENSE00003534389 | 42152688 | 42152754 |
| ENSE00003536286 | 42147124 | 42147346 |
| ENSE00003590606 | 42150104 | 42150141 |
| ENSE00003601904 | 42149713 | 42149848 |
| ENSE00003619802 | 42143978 | 42144144 |
| ENSE00003624495 | 42153620 | 42153660 |
| ENSE00003624752 | 42145766 | 42145903 |
| ENSE00003645669 | 42145575 | 42145682 |
| ENSE00003669112 | 42146127 | 42146241 |
| ENSE00003685703 | 42150608 | 42150777 |
Expression profiles
Bgee: expression breadth ubiquitous, 146 present calls, max score 96.95.
FANTOM5 (CAGE): breadth broad, TPM avg 1.4214 / max 378.7413, expressed in 255 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 149544 | 1.4214 | 255 |
Top tissues by expression
244 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skin of abdomen | UBERON:0001416 | 96.95 | gold quality |
| skin of leg | UBERON:0001511 | 96.25 | gold quality |
| upper arm skin | UBERON:0004263 | 95.25 | silver quality |
| zone of skin | UBERON:0000014 | 93.47 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 86.59 | gold quality |
| kidney epithelium | UBERON:0004819 | 86.22 | gold quality |
| pancreatic ductal cell | CL:0002079 | 85.10 | silver quality |
| epithelial cell of pancreas | CL:0000083 | 84.78 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 84.19 | gold quality |
| esophagus mucosa | UBERON:0002469 | 83.38 | gold quality |
| metanephros cortex | UBERON:0010533 | 83.25 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 83.20 | gold quality |
| right lung | UBERON:0002167 | 82.91 | gold quality |
| heart right ventricle | UBERON:0002080 | 82.53 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 82.26 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 82.10 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 80.71 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 80.67 | gold quality |
| myocardium | UBERON:0002349 | 80.67 | gold quality |
| upper lobe of lung | UBERON:0008948 | 80.42 | gold quality |
| tibialis anterior | UBERON:0001385 | 80.37 | silver quality |
| hindlimb stylopod muscle | UBERON:0004252 | 79.92 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 79.90 | gold quality |
| ileal mucosa | UBERON:0000331 | 79.84 | gold quality |
| quadriceps femoris | UBERON:0001377 | 79.66 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 79.53 | gold quality |
| vastus lateralis | UBERON:0001379 | 79.52 | gold quality |
| rectum | UBERON:0001052 | 78.80 | gold quality |
| gastrocnemius | UBERON:0001388 | 78.76 | gold quality |
| transverse colon | UBERON:0001157 | 78.71 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 20.73 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
38 targeting PLA2G4F, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-10394-5P | 99.65 | 66.83 | 1852 |
| HSA-MIR-1205 | 99.65 | 66.76 | 1826 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-942-5P | 99.41 | 68.40 | 1977 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-6739-3P | 99.22 | 68.84 | 1843 |
| HSA-MIR-4758-3P | 99.12 | 63.96 | 869 |
| HSA-MIR-4254 | 99.11 | 65.15 | 1315 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-3154 | 98.94 | 66.55 | 1455 |
| HSA-MIR-210-5P | 98.57 | 64.37 | 832 |
| HSA-MIR-1237-3P | 98.55 | 67.65 | 1423 |
| HSA-MIR-4736 | 97.96 | 65.89 | 1287 |
| HSA-MIR-204-3P | 97.80 | 66.84 | 1656 |
| HSA-MIR-4646-5P | 97.70 | 66.84 | 1692 |
| HSA-MIR-3189-5P | 97.55 | 66.71 | 655 |
| HSA-MIR-4797-3P | 97.48 | 67.14 | 989 |
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Pla2g4f | ENSMUSG00000046971 |
| rattus_norvegicus | Pla2g4f | ENSRNOG00000008135 |
Paralogs (5): PLA2G4C (ENSG00000105499), PLA2G4A (ENSG00000116711), PLA2G4D (ENSG00000159337), PLA2G4E (ENSG00000188089), PLA2G4B (ENSG00000243708)
Protein
Protein identifiers
Cytosolic phospholipase A2 zeta — Q68DD2 (reviewed: Q68DD2)
Alternative names: Phospholipase A2 group IVF
All UniProt accessions (6): Q68DD2, H3BMD0, H3BNW4, H3BPX7, H3BSG9, H7BXJ8
UniProt curated annotations — full annotation on UniProt →
Function. Has calcium-dependent phospholipase and lysophospholipase activities with a potential role in membrane lipid remodeling and biosynthesis of lipid mediators. Preferentially hydrolyzes the ester bond of the fatty acyl group attached at sn-2 position of phospholipids (phospholipase A2 activity). Selectively hydrolyzes sn-2 arachidonoyl group from membrane phospholipids, providing the precursor for eicosanoid biosynthesis. In myocardial mitochondria, plays a major role in arachidonate release that is metabolically channeled to the formation of cardioprotective eicosanoids, epoxyeicosatrienoates (EETs).
Subcellular location. Cytoplasm. Cytosol. Cell membrane. Mitochondrion.
Tissue specificity. Expressed in myocardium (at protein level).
Activity regulation. Stimulated by cytosolic Ca(2+).
Domain organisation. The N-terminal C2 domain associates with lipid membranes upon calcium binding. It modulates enzyme activity by presenting the active site to its substrate in response to elevations of cytosolic Ca(2+).
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q68DD2-1 | 1 | yes |
| Q68DD2-2 | 2 | |
| Q68DD2-3 | 3 |
RefSeq proteins (1): NP_998765* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000008 | C2_dom | Domain |
| IPR002642 | LysoPLipase_cat_dom | Domain |
| IPR016035 | Acyl_Trfase/lysoPLipase | Homologous_superfamily |
| IPR035892 | C2_domain_sf | Homologous_superfamily |
| IPR040723 | cPLA2_C2 | Domain |
| IPR041847 | C2_cPLA2 | Domain |
Pfam: PF00168, PF01735, PF18695
Catalyzed reactions (Rhea), 10 shown:
- a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 1-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+) (RHEA:15801)
- a 1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = a 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+) (RHEA:36231)
- 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H2O = 2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + hexadecanoate + H(+) (RHEA:38783)
- 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphocholine + H2O = 1-hexadecanoyl-sn-glycero-3-phosphocholine + (5Z,8Z,11Z,14Z)-eicosatetraenoate + H(+) (RHEA:40427)
- 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine + H2O = 1-hexadecanoyl-sn-glycero-3-phosphoethanolamine + (5Z,8Z,11Z,14Z)-eicosatetraenoate + H(+) (RHEA:40431)
- 1-hexadecanoyl-sn-glycero-3-phosphocholine + H2O = sn-glycerol 3-phosphocholine + hexadecanoate + H(+) (RHEA:40435)
- 1-hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine + H2O = (9Z,12Z)-octadecadienoate + 1-hexadecanoyl-sn-glycero-3-phosphocholine + H(+) (RHEA:40811)
- 1-hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphoethanolamine + H2O = 1-hexadecanoyl-sn-glycero-3-phosphoethanolamine + (9Z,12Z)-octadecadienoate + H(+) (RHEA:40815)
- 1-O-hexadecyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphocholine + H2O = 1-O-hexadecyl-sn-glycero-3-phosphocholine + (5Z,8Z,11Z,14Z)-eicosatetraenoate + H(+) (RHEA:41067)
- 1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-2-O-hexadecyl-sn-glycero-3-phosphocholine + H2O = 2-O-hexadecyl-sn-glycero-3-phosphocholine + (5Z,8Z,11Z,14Z)-eicosatetraenoate + H(+) (RHEA:41271)
UniProt features (21 total): binding site 8, splice variant 3, sequence conflict 3, domain 2, sequence variant 2, active site 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q68DD2-F1 | 83.07 | 0.54 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 395 (nucleophile); 680 (proton acceptor)
Ligand- & substrate-binding residues (8): 118; 118; 123; 60; 60; 66; 116; 116
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-1482788 | Acyl chain remodelling of PC |
| R-HSA-1482801 | Acyl chain remodelling of PS |
| R-HSA-1482839 | Acyl chain remodelling of PE |
| R-HSA-1482922 | Acyl chain remodelling of PI |
| R-HSA-1482925 | Acyl chain remodelling of PG |
| R-HSA-1483115 | Hydrolysis of LPC |
MSigDB gene sets: 138 (showing top):
GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, HOFFMANN_SMALL_PRE_BII_TO_IMMATURE_B_LYMPHOCYTE_DN, PEREZ_TP63_TARGETS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOCC_RUFFLE, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GGGTGGRR_PAX4_03, GOBP_PHOSPHATIDYLGLYCEROL_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM6, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_SECRETION
GO Biological Process (10): prostaglandin biosynthetic process (GO:0001516), phosphatidylglycerol acyl-chain remodeling (GO:0036148), glycerophospholipid catabolic process (GO:0046475), arachidonate secretion (GO:0050482), cellular response to antibiotic (GO:0071236), lipid metabolic process (GO:0006629), glycerophospholipid metabolic process (GO:0006650), phospholipid catabolic process (GO:0009395), fatty acid transport (GO:0015908), lipid catabolic process (GO:0016042)
GO Molecular Function (10): phosphatidylcholine lysophospholipase A1 activity (GO:0004622), calcium ion binding (GO:0005509), calcium-dependent phospholipid binding (GO:0005544), glycerophospholipid phospholipase A1 activity (GO:0008970), obsolete calcium-dependent phospholipase A2 activity (GO:0047498), glycerophospholipase activity (GO:0004620), A2-type glycerophospholipase activity (GO:0004623), hydrolase activity (GO:0016787), metal ion binding (GO:0046872), carboxylic ester hydrolase activity (GO:0052689)
GO Cellular Component (7): mitochondrion (GO:0005739), cytosol (GO:0005829), vesicle (GO:0031982), ruffle membrane (GO:0032587), cytoplasm (GO:0005737), plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Glycerophospholipid biosynthesis | 6 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| phospholipid metabolic process | 2 |
| cytoplasm | 2 |
| prostaglandin metabolic process | 1 |
| prostanoid biosynthetic process | 1 |
| phosphatidylglycerol metabolic process | 1 |
| glycerophospholipid metabolic process | 1 |
| phospholipid catabolic process | 1 |
| glycerolipid catabolic process | 1 |
| icosanoid secretion | 1 |
| arachidonate transport | 1 |
| response to antibiotic | 1 |
| cellular response to chemical stimulus | 1 |
| primary metabolic process | 1 |
| glycerolipid metabolic process | 1 |
| lipid catabolic process | 1 |
| organophosphate catabolic process | 1 |
| lipid transport | 1 |
| monocarboxylic acid transport | 1 |
| lipid metabolic process | 1 |
| catabolic process | 1 |
| lysophospholipase A1 activity | 1 |
| metal ion binding | 1 |
| phospholipid binding | 1 |
| A1-type glycerophospholipase activity | 1 |
| phospholipase activity | 1 |
| glycerophospholipase activity | 1 |
| carboxylic ester hydrolase activity | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| hydrolase activity, acting on ester bonds | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane-bounded organelle | 1 |
| ruffle | 1 |
| cell projection membrane | 1 |
| leading edge membrane | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
676 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PLA2G4F | PNPLA8 | Q9NP80 | 481 |
| PLA2G4F | PLA2G2A | P14555 | 460 |
| PLA2G4F | PLA2G3 | Q9NZ20 | 458 |
| PLA2G4F | PLA2G2F | Q9BZM2 | 434 |
| PLA2G4F | PLA2G2E | Q9NZK7 | 433 |
| PLA2G4F | TVP23A | A6NH52 | 429 |
| PLA2G4F | PLA2G6 | O60733 | 404 |
| PLA2G4F | NRN1L | Q496H8 | 398 |
| PLA2G4F | PNPLA7 | Q6ZV29 | 370 |
| PLA2G4F | PLA2G2D | Q9UNK4 | 366 |
| PLA2G4F | PLA2G15 | Q8NCC3 | 364 |
| PLA2G4F | PNPLA6 | Q8IY17 | 364 |
| PLA2G4F | EPHX4 | Q8IUS5 | 360 |
| PLA2G4F | RPRML | Q8N4K4 | 355 |
| PLA2G4F | EFTUD2 | Q15029 | 352 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PLA2G4F | H1-2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PLA2G4F | H1-5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PLA2G4F | H2BC12L | psi-mi:“MI:0915”(physical association) | 0.400 |
| PLA2G4F | H2BC9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PLA2G4F | H1-1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PLA2G4F | CFAP97 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PLA2G4F | H3-4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PLA2G4F | HIST2H2BF | psi-mi:“MI:0915”(physical association) | 0.400 |
| ALB | SH3BP5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (10): PLA2G4F (Proximity Label-MS), PLA2G4F (Proximity Label-MS), PLA2G4F (Proximity Label-MS), HIST1H2BH (Proximity Label-MS), CFAP97 (Proximity Label-MS), PLA2G4F (Proximity Label-MS), PLA2G4F (Proximity Label-MS), PLA2G4F (Proximity Label-MS), PLA2G4F (Negative Genetic), PLA2G4F (Affinity Capture-MS)
ESM2 similar proteins: A0A8C2MDK8, A0PJX2, A2ACG1, D3ZBP4, E2RDP2, F1MH07, O08644, O75038, O75064, O75636, P0C0K7, P0DPD7, P0DPE0, P0DPE1, P52824, Q00653, Q0IID2, Q1LWV7, Q3SYT1, Q3U1Y4, Q4KM32, Q4R380, Q5NCQ5, Q5RKI3, Q62137, Q684M2, Q68DD2, Q6ZSI9, Q86TL0, Q86XP0, Q8BGV9, Q8BX80, Q8C9V1, Q8NFF5, Q8NFI3, Q8R5G7, Q8TDZ2, Q8VDP3, Q8WWN8, Q91ZJ0
Diamond homologs: A0JJX5, A4IFJ5, B1WAZ6, O77793, P47712, P47713, P49147, P50392, P50393, Q08108, Q3MJ16, Q50L41, Q50L42, Q50L43, Q5R8A5, Q60EW9, Q68DD2, Q7T0T9, Q7XA06, Q8L706, Q8RXU9, Q9LEX1, Q9M2D4, Q9TT38, B6ETT4, P0C871, P34693, P53541, Q06846, Q15111, Q3USB7, Q62688, Q8K394, Q9FL59, Q9Y2J0, A0FGR9, Q69ZN7, Q9NZM1, Q9SKR2, C9J798
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
202 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 175 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4272 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:42142202:CAC:C | acceptor_gain | 1.0000 |
| 15:42142206:T:A | acceptor_loss | 1.0000 |
| 15:42142211:G:GC | acceptor_gain | 1.0000 |
| 15:42143973:CTCA:C | donor_loss | 1.0000 |
| 15:42143974:TCAC:T | donor_loss | 1.0000 |
| 15:42143975:CACCT:C | donor_loss | 1.0000 |
| 15:42143976:A:AG | donor_loss | 1.0000 |
| 15:42143977:C:CT | donor_loss | 1.0000 |
| 15:42143991:T:TA | donor_gain | 1.0000 |
| 15:42144155:CCCA:C | acceptor_gain | 1.0000 |
| 15:42144156:CCA:C | acceptor_gain | 1.0000 |
| 15:42144157:CA:C | acceptor_gain | 1.0000 |
| 15:42144468:C:CA | donor_gain | 1.0000 |
| 15:42145571:TCAC:T | donor_loss | 1.0000 |
| 15:42145572:CACCT:C | donor_loss | 1.0000 |
| 15:42145573:A:AG | donor_loss | 1.0000 |
| 15:42145678:CATAC:C | acceptor_gain | 1.0000 |
| 15:42145680:TAC:T | acceptor_gain | 1.0000 |
| 15:42145680:TACC:T | acceptor_loss | 1.0000 |
| 15:42145684:T:C | acceptor_loss | 1.0000 |
| 15:42145761:CTCA:C | donor_loss | 1.0000 |
| 15:42145762:TCACC:T | donor_loss | 1.0000 |
| 15:42145763:CACC:C | donor_loss | 1.0000 |
| 15:42145764:A:AC | donor_gain | 1.0000 |
| 15:42145764:A:T | donor_loss | 1.0000 |
| 15:42145764:AC:A | donor_gain | 1.0000 |
| 15:42145765:C:CT | donor_gain | 1.0000 |
| 15:42145765:CC:C | donor_gain | 1.0000 |
| 15:42145765:CCTTG:C | donor_gain | 1.0000 |
| 15:42145899:CCACT:C | acceptor_gain | 1.0000 |
AlphaMissense
5506 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:42154363:A:G | W94R | 0.987 |
| 15:42154363:A:T | W94R | 0.987 |
| 15:42145901:A:G | W513R | 0.982 |
| 15:42145901:A:T | W513R | 0.982 |
| 15:42154361:C:A | W94C | 0.981 |
| 15:42154361:C:G | W94C | 0.981 |
| 15:42144029:T:A | R697S | 0.977 |
| 15:42144029:T:G | R697S | 0.977 |
| 15:42142547:G:C | F770L | 0.976 |
| 15:42142547:G:T | F770L | 0.976 |
| 15:42142549:A:G | F770L | 0.976 |
| 15:42149779:C:A | R331S | 0.974 |
| 15:42149779:C:G | R331S | 0.974 |
| 15:42142667:G:C | F730L | 0.973 |
| 15:42142667:G:T | F730L | 0.973 |
| 15:42142669:A:G | F730L | 0.973 |
| 15:42147315:A:G | W410R | 0.973 |
| 15:42147315:A:T | W410R | 0.973 |
| 15:42149791:A:C | F327L | 0.970 |
| 15:42149791:A:T | F327L | 0.970 |
| 15:42149793:A:G | F327L | 0.970 |
| 15:42145677:A:G | W560R | 0.968 |
| 15:42145677:A:T | W560R | 0.968 |
| 15:42144463:G:C | F654L | 0.966 |
| 15:42144463:G:T | F654L | 0.966 |
| 15:42144465:A:G | F654L | 0.966 |
| 15:42147697:G:C | S375R | 0.966 |
| 15:42147697:G:T | S375R | 0.966 |
| 15:42147699:T:G | S375R | 0.966 |
| 15:42149780:C:A | R331M | 0.965 |
dbSNP variants (sampled 300 via entrez): RS1000052057 (15:42146973 A>G), RS1000073465 (15:42153902 A>C), RS1000176675 (15:42149968 C>A,G,T), RS1000306170 (15:42145171 G>A), RS1000454589 (15:42154927 A>C,G), RS1000711407 (15:42149418 G>T), RS1000767890 (15:42140381 G>A), RS1000863848 (15:42145345 C>G), RS1000908538 (15:42153780 G>A,C,T), RS1001283745 (15:42156987 C>T), RS1001730654 (15:42156025 G>A,T), RS1001864171 (15:42144288 TGCCTTCCA>T), RS1002010492 (15:42157580 C>T), RS1002028168 (15:42139001 G>A), RS1002076828 (15:42156230 T>C)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — Phospholipase A2
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| sodium arsenite | affects expression | 1 |
| eprenetapopt | affects expression, affects reaction | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Fulvestrant | increases methylation | 1 |
| Leflunomide | increases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Triclosan | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Okadaic Acid | increases expression | 1 |
| Lactic Acid | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.